| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89805285_89812400del | CA916081864 | FANCA | c.284-1328_705del n.119-1328_540del n.327-1328_748del c.315-1328_736del c.284-1328_*49del c.119-1298_570del c.141-1328_562del c.119-1328_540del c.284-1328_609del c.197-1328_618del n.866-1328_1287del c.-869-1328_-448del | ClinVar |
| 16 | g.89805989_89815112del | CA1139664979 | FANCA | c.190-494_597-592del n.25-494_432-592del n.233-494_640-592del c.25-494_628-592del c.190-494_523-592del c.25-494_462-592del c.25-472_454-592del c.25-494_432-592del c.190-494_501-592del c.103-494_510-592del n.772-494_1179-592del c.-963-494_-556-592del | ClinVar |
| 16 | g.89807755_89816658del | CA1139664980 | FANCA | c.-41_596+541del n.3_639+541del c.-41_523-2361del c.-41_500+541del | ClinVar |
| 16 | g.89809030_89816657del | CA1139664981 | FANCA | c.-42_523-663del n.2_566-663del c.-42_522+1677del c.-42_427-663del | ClinVar |
| 16 | g.89809185_89816657del | CA1139664982 | FANCA | c.-41_523-817del n.3_566-817del c.-41_522+1523del c.-41_427-817del | ClinVar |
| 16 | g.89809195_89816657del | CA1139664983 | FANCA | c.-42_523-828del n.2_566-828del c.-42_522+1512del c.-42_427-828del | ClinVar |
| 16 | g.89810705_89811070delinsACCTGTATTTTCCATAATTCTTGACAGAAGGAAAGACGGGAGAACATACTGTGTGCCAATAAATACTGAGCAAACTCTAACAGGGAAGACAGCTTCTTCTGAAAAGAGAGATTACATTTTTTAAAAAACAAATTACCTGAAACAATACTAAAGCTATGTCCTATTTTCCCAACCAGCTTAAAAGTAACAACGGGCAGGTTTCCTCATCTTTGCTGGTGTCTTACTCTCTGCTCCACAGTCAGCAGCACAGGGTGACTGGTCTCCGCTGGAGCCGTGCAGATCTGTCCCACGCTAGAGGCAACCATCCCGGCTGAGAGAATACCCACGGGAACCCCCAGCCTTGAGGCTTGATCCTGCAAAGCAGAG | CA2241938791 | FANCA | c.285_522+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.120_357+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.328_565+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.316_553+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.150_387+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.142_379+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.120_357+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.285_426+224delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.284-13_*163+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.198_435+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.867_1104+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT n.278_517delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT c.-868_-631+2delinsCTCTGCTTTGCAGGATCAAGCCTCAAGGCTGGGGGTTCCCGTGGGTATTCTCTCAGCCGGGATGGTTGCCTCTAGCGTGGGACAGATCTGCACGGCTCCAGCGGAGACCAGTCACCCTGTGCTGCTGACTGTGGAGCAGAGAGTAAGACACCAGCAAAGATGAGGAAACCTGCCCGTTGTTACTTTTAAGCTGGTTGGGAAAATAGGACATAGCTTTAGTATTGTTTCAGGTAATTTGTTTTTTAAAAAATGTAATCTCTCTTTTCAGAAGAAGCTGTCTTCCCTGTTAGAGTTTGCTCAGTATTTATTGGCACACAGTATGTTCTCCCGTCTTTCCTTCTGTCAAGAATTATGGAAAATACAGGT | |
| 16 | g.89810709_89811073del | CA1139664984 | FANCA | c.285_522+1del n.120_357+1del n.328_565+1del c.316_553+1del c.150_387+1del c.142_379+1del c.120_357+1del c.285_426+223del c.284-13_*163+1del c.198_435+1del n.867_1104+1del n.278_516del c.-868_-631+1del | ClinVar dbSNP |
| 16 | g.89810959_89810960delinsAC | CA2241938969 | FANCA | c.395_396delinsGT (p.Ser132=) n.230_231delinsGT n.438_439delinsGT c.426_427delinsGT (n.426_427delinsGT) c.260_261delinsGT (n.260_261delinsGT) c.252_253delinsGT (n.252_253delinsGT) c.230_231delinsGT (p.Ser77=) c.*36_*37delinsGT (n.*36_*37delinsGT) c.308_309delinsGT (p.Ser103=) n.977_978delinsGT n.388_389delinsGT c.-758_-757delinsGT (n.-758_-757delinsGT) | |
| 16 | g.89810960del | CA8253038 | FANCA | c.395del (p.Ser132IlefsTer6) n.230del n.438del c.426del (n.426del) c.260del (n.260del) c.252del (n.252del) c.230del (p.Ser77IlefsTer6) c.*36del (n.*36del) c.308del (p.Ser103IlefsTer6) n.977del n.388del c.-758del (n.-758del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89810960C>A | CA397480916 | FANCA | c.395G>T (p.Ser132Ile) n.230G>T n.438G>T c.426G>T (n.426G>T) c.260G>T (n.260G>T) c.252G>T (n.252G>T) c.230G>T (p.Ser77Ile) c.*36G>T (n.*36G>T) c.308G>T (p.Ser103Ile) n.977G>T n.388G>T c.-758G>T (n.-758G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810960C= | CA2241938970 | FANCA | c.395G= (p.Ser132=) n.230G= n.438G= c.426G= (n.426G=) c.260G= (n.260G=) c.252G= (n.252G=) c.230G= (p.Ser77=) c.*36G= (n.*36G=) c.308G= (p.Ser103=) n.977G= n.388G= c.-758G= (n.-758G=) | |
| 16 | g.89810960C>G | CA397480917 | FANCA | c.395G>C (p.Ser132Thr) n.230G>C n.438G>C c.426G>C (n.426G>C) c.260G>C (n.260G>C) c.252G>C (n.252G>C) c.230G>C (p.Ser77Thr) c.*36G>C (n.*36G>C) c.308G>C (p.Ser103Thr) n.977G>C n.388G>C c.-758G>C (n.-758G>C) | dbSNP |
| 16 | g.89810960C>T | CA397480918 | FANCA | c.395G>A (p.Ser132Asn) n.230G>A n.438G>A c.426G>A (n.426G>A) c.260G>A (n.260G>A) c.252G>A (n.252G>A) c.230G>A (p.Ser77Asn) c.*36G>A (n.*36G>A) c.308G>A (p.Ser103Asn) n.977G>A n.388G>A c.-758G>A (n.-758G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810961T>A | CA286608227 | FANCA | c.394A>T (p.Ser132Cys) n.229A>T n.437A>T c.425A>T (n.425A>T) c.259A>T (n.259A>T) c.251A>T (n.251A>T) c.229A>T (p.Ser77Cys) c.*35A>T (n.*35A>T) c.307A>T (p.Ser103Cys) n.976A>T n.387A>T c.-759A>T (n.-759A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810961T>C | CA397480919 | FANCA | c.394A>G (p.Ser132Gly) n.229A>G n.437A>G c.425A>G (n.425A>G) c.259A>G (n.259A>G) c.251A>G (n.251A>G) c.229A>G (p.Ser77Gly) c.*35A>G (n.*35A>G) c.307A>G (p.Ser103Gly) n.976A>G n.387A>G c.-759A>G (n.-759A>G) | gnomAD v4 |
| 16 | g.89810961T>G | CA397480920 | FANCA | c.394A>C (p.Ser132Arg) n.229A>C n.437A>C c.425A>C (n.425A>C) c.259A>C (n.259A>C) c.251A>C (n.251A>C) c.229A>C (p.Ser77Arg) c.*35A>C (n.*35A>C) c.307A>C (p.Ser103Arg) n.976A>C n.387A>C c.-759A>C (n.-759A>C) | |
| 16 | g.89810961T= | CA2241938971 | FANCA | c.394A= (p.Ser132=) n.229A= n.437A= c.425A= (n.425A=) c.259A= (n.259A=) c.251A= (n.251A=) c.229A= (p.Ser77=) c.*35A= (n.*35A=) c.307A= (p.Ser103=) n.976A= n.387A= c.-759A= (n.-759A=) | |
| 16 | g.89810962G>A | CA497379351 | FANCA | c.393C>T (p.Thr131=) n.228C>T n.436C>T c.424C>T (n.424C>T) c.258C>T (n.258C>T) c.250C>T (n.250C>T) c.228C>T (p.Thr76=) c.*34C>T (n.*34C>T) c.306C>T (p.Thr102=) n.975C>T n.386C>T c.-760C>T (n.-760C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810962G>C | CA497379352 | FANCA | c.393C>G (p.Thr131=) n.228C>G n.436C>G c.424C>G (n.424C>G) c.258C>G (n.258C>G) c.250C>G (n.250C>G) c.228C>G (p.Thr76=) c.*34C>G (n.*34C>G) c.306C>G (p.Thr102=) n.975C>G n.386C>G c.-760C>G (n.-760C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.89810962G= | CA2241938972 | FANCA | c.393C= (p.Thr131=) n.228C= n.436C= c.424C= (n.424C=) c.258C= (n.258C=) c.250C= (n.250C=) c.228C= (p.Thr76=) c.*34C= (n.*34C=) c.306C= (p.Thr102=) n.975C= n.386C= c.-760C= (n.-760C=) | |
| 16 | g.89810962G>T | CA497379353 | FANCA | c.393C>A (p.Thr131=) n.228C>A n.436C>A c.424C>A (n.424C>A) c.258C>A (n.258C>A) c.250C>A (n.250C>A) c.228C>A (p.Thr76=) c.*34C>A (n.*34C>A) c.306C>A (p.Thr102=) n.975C>A n.386C>A c.-760C>A (n.-760C>A) | ClinVar dbSNP |
| 16 | g.89810963G>A | CA286608229 | FANCA | c.392C>T (p.Thr131Ile) n.227C>T n.435C>T c.423C>T (n.423C>T) c.257C>T (n.257C>T) c.249C>T (n.249C>T) c.227C>T (p.Thr76Ile) c.*33C>T (n.*33C>T) c.305C>T (p.Thr102Ile) n.974C>T n.385C>T c.-761C>T (n.-761C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810963G>C | CA286608231 | FANCA | c.392C>G (p.Thr131Ser) n.227C>G n.435C>G c.423C>G (n.423C>G) c.257C>G (n.257C>G) c.249C>G (n.249C>G) c.227C>G (p.Thr76Ser) c.*33C>G (n.*33C>G) c.305C>G (p.Thr102Ser) n.974C>G n.385C>G c.-761C>G (n.-761C>G) | dbSNP gnomAD v4 |
| 16 | g.89810963G= | CA2241938973 | FANCA | c.392C= (p.Thr131=) n.227C= n.435C= c.423C= (n.423C=) c.257C= (n.257C=) c.249C= (n.249C=) c.227C= (p.Thr76=) c.*33C= (n.*33C=) c.305C= (p.Thr102=) n.974C= n.385C= c.-761C= (n.-761C=) | |
| 16 | g.89810963G>T | CA8253039 | FANCA | c.392C>A (p.Thr131Asn) n.227C>A n.435C>A c.423C>A (n.423C>A) c.257C>A (n.257C>A) c.249C>A (n.249C>A) c.227C>A (p.Thr76Asn) c.*33C>A (n.*33C>A) c.305C>A (p.Thr102Asn) n.974C>A n.385C>A c.-761C>A (n.-761C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89810964T>A | CA397480921 | FANCA | c.391A>T (p.Thr131Ser) n.226A>T n.434A>T c.422A>T (n.422A>T) c.256A>T (n.256A>T) c.248A>T (n.248A>T) c.226A>T (p.Thr76Ser) c.*32A>T (n.*32A>T) c.304A>T (p.Thr102Ser) n.973A>T n.384A>T c.-762A>T (n.-762A>T) | |
| 16 | g.89810964T>C | CA397480923 | FANCA | c.391A>G (p.Thr131Ala) n.226A>G n.434A>G c.422A>G (n.422A>G) c.256A>G (n.256A>G) c.248A>G (n.248A>G) c.226A>G (p.Thr76Ala) c.*32A>G (n.*32A>G) c.304A>G (p.Thr102Ala) n.973A>G n.384A>G c.-762A>G (n.-762A>G) | |
| 16 | g.89810964T>G | CA397480922 | FANCA | c.391A>C (p.Thr131Pro) n.226A>C n.434A>C c.422A>C (n.422A>C) c.256A>C (n.256A>C) c.248A>C (n.248A>C) c.226A>C (p.Thr76Pro) c.*32A>C (n.*32A>C) c.304A>C (p.Thr102Pro) n.973A>C n.384A>C c.-762A>C (n.-762A>C) | |
| 16 | g.89810965C>A | CA8253041 | FANCA | c.390G>T (p.Glu130Asp) n.225G>T n.433G>T c.421G>T (n.421G>T) c.255G>T (n.255G>T) c.247G>T (n.247G>T) c.225G>T (p.Glu75Asp) c.*31G>T (n.*31G>T) c.303G>T (p.Glu101Asp) n.972G>T n.383G>T c.-763G>T (n.-763G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89810965C= | CA2241938974 | FANCA | c.390G= (p.Glu130=) n.225G= n.433G= c.421G= (n.421G=) c.255G= (n.255G=) c.247G= (n.247G=) c.225G= (p.Glu75=) c.*31G= (n.*31G=) c.303G= (p.Glu101=) n.972G= n.383G= c.-763G= (n.-763G=) | |
| 16 | g.89810965C>G | CA8253040 | FANCA | c.390G>C (p.Glu130Asp) n.225G>C n.433G>C c.421G>C (n.421G>C) c.255G>C (n.255G>C) c.247G>C (n.247G>C) c.225G>C (p.Glu75Asp) c.*31G>C (n.*31G>C) c.303G>C (p.Glu101Asp) n.972G>C n.383G>C c.-763G>C (n.-763G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89810965C>T | CA497379354 | FANCA | c.390G>A (p.Glu130=) n.225G>A n.433G>A c.421G>A (n.421G>A) c.255G>A (n.255G>A) c.247G>A (n.247G>A) c.225G>A (p.Glu75=) c.*31G>A (n.*31G>A) c.303G>A (p.Glu101=) n.972G>A n.383G>A c.-763G>A (n.-763G>A) | gnomAD v4 |
| 16 | g.89810966T>A | CA397480924 | FANCA | c.389A>T (p.Glu130Val) n.224A>T n.432A>T c.420A>T (n.420A>T) c.254A>T (n.254A>T) c.246A>T (n.246A>T) c.224A>T (p.Glu75Val) c.*30A>T (n.*30A>T) c.302A>T (p.Glu101Val) n.971A>T n.382A>T c.-764A>T (n.-764A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810966T>C | CA397480925 | FANCA | c.389A>G (p.Glu130Gly) n.224A>G n.432A>G c.420A>G (n.420A>G) c.254A>G (n.254A>G) c.246A>G (n.246A>G) c.224A>G (p.Glu75Gly) c.*30A>G (n.*30A>G) c.302A>G (p.Glu101Gly) n.971A>G n.382A>G c.-764A>G (n.-764A>G) | |
| 16 | g.89810966T>G | CA397480926 | FANCA | c.389A>C (p.Glu130Ala) n.224A>C n.432A>C c.420A>C (n.420A>C) c.254A>C (n.254A>C) c.246A>C (n.246A>C) c.224A>C (p.Glu75Ala) c.*30A>C (n.*30A>C) c.302A>C (p.Glu101Ala) n.971A>C n.382A>C c.-764A>C (n.-764A>C) | |
| 16 | g.89810966T= | CA2241938975 | FANCA | c.389A= (p.Glu130=) n.224A= n.432A= c.420A= (n.420A=) c.254A= (n.254A=) c.246A= (n.246A=) c.224A= (p.Glu75=) c.*30A= (n.*30A=) c.302A= (p.Glu101=) n.971A= n.382A= c.-764A= (n.-764A=) | |
| 16 | g.89810967C>A | CA397480929 | FANCA | c.388G>T (p.Glu130Ter) n.223G>T n.431G>T c.419G>T (n.419G>T) c.253G>T (n.253G>T) c.245G>T (n.245G>T) c.223G>T (p.Glu75Ter) c.*29G>T (n.*29G>T) c.301G>T (p.Glu101Ter) n.970G>T n.381G>T c.-765G>T (n.-765G>T) | |
| 16 | g.89810967C= | CA2241938976 | FANCA | c.388G= (p.Glu130=) n.223G= n.431G= c.419G= (n.419G=) c.253G= (n.253G=) c.245G= (n.245G=) c.223G= (p.Glu75=) c.*29G= (n.*29G=) c.301G= (p.Glu101=) n.970G= n.381G= c.-765G= (n.-765G=) | |
| 16 | g.89810967C>G | CA397480928 | FANCA | c.388G>C (p.Glu130Gln) n.223G>C n.431G>C c.419G>C (n.419G>C) c.253G>C (n.253G>C) c.245G>C (n.245G>C) c.223G>C (p.Glu75Gln) c.*29G>C (n.*29G>C) c.301G>C (p.Glu101Gln) n.970G>C n.381G>C c.-765G>C (n.-765G>C) | |
| 16 | g.89810967C>T | CA397480927 | FANCA | c.388G>A (p.Glu130Lys) n.223G>A n.431G>A c.419G>A (n.419G>A) c.253G>A (n.253G>A) c.245G>A (n.245G>A) c.223G>A (p.Glu75Lys) c.*29G>A (n.*29G>A) c.301G>A (p.Glu101Lys) n.970G>A n.381G>A c.-765G>A (n.-765G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810968C>A | CA497379355 | FANCA | c.387G>T (p.Ala129=) n.222G>T n.430G>T c.418G>T (n.418G>T) c.252G>T (n.252G>T) c.244G>T (n.244G>T) c.222G>T (p.Ala74=) c.*28G>T (n.*28G>T) c.300G>T (p.Ala100=) n.969G>T n.380G>T c.-766G>T (n.-766G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.89810968C= | CA2241938977 | FANCA | c.387G= (p.Ala129=) n.222G= n.430G= c.418G= (n.418G=) c.252G= (n.252G=) c.244G= (n.244G=) c.222G= (p.Ala74=) c.*28G= (n.*28G=) c.300G= (p.Ala100=) n.969G= n.380G= c.-766G= (n.-766G=) | |
| 16 | g.89810968C>G | CA497379356 | FANCA | c.387G>C (p.Ala129=) n.222G>C n.430G>C c.418G>C (n.418G>C) c.252G>C (n.252G>C) c.244G>C (n.244G>C) c.222G>C (p.Ala74=) c.*28G>C (n.*28G>C) c.300G>C (p.Ala100=) n.969G>C n.380G>C c.-766G>C (n.-766G>C) | |
| 16 | g.89810968C>T | CA497379357 | FANCA | c.387G>A (p.Ala129=) n.222G>A n.430G>A c.418G>A (n.418G>A) c.252G>A (n.252G>A) c.244G>A (n.244G>A) c.222G>A (p.Ala74=) c.*28G>A (n.*28G>A) c.300G>A (p.Ala100=) n.969G>A n.380G>A c.-766G>A (n.-766G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810969G>A | CA8253042 | FANCA | c.386C>T (p.Ala129Val) n.221C>T n.429C>T c.417C>T (n.417C>T) c.251C>T (n.251C>T) c.243C>T (n.243C>T) c.221C>T (p.Ala74Val) c.*27C>T (n.*27C>T) c.299C>T (p.Ala100Val) n.968C>T n.379C>T c.-767C>T (n.-767C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.89810969G>C | CA397480930 | FANCA | c.386C>G (p.Ala129Gly) n.221C>G n.429C>G c.417C>G (n.417C>G) c.251C>G (n.251C>G) c.243C>G (n.243C>G) c.221C>G (p.Ala74Gly) c.*27C>G (n.*27C>G) c.299C>G (p.Ala100Gly) n.968C>G n.379C>G c.-767C>G (n.-767C>G) | |
| 16 | g.89810969G= | CA2241938978 | FANCA | c.386C= (p.Ala129=) n.221C= n.429C= c.417C= (n.417C=) c.251C= (n.251C=) c.243C= (n.243C=) c.221C= (p.Ala74=) c.*27C= (n.*27C=) c.299C= (p.Ala100=) n.968C= n.379C= c.-767C= (n.-767C=) | |
| 16 | g.89810969G>T | CA397480931 | FANCA | c.386C>A (p.Ala129Glu) n.221C>A n.429C>A c.417C>A (n.417C>A) c.251C>A (n.251C>A) c.243C>A (n.243C>A) c.221C>A (p.Ala74Glu) c.*27C>A (n.*27C>A) c.299C>A (p.Ala100Glu) n.968C>A n.379C>A c.-767C>A (n.-767C>A) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89810970C>A | CA8253043 | FANCA | c.385G>T (p.Ala129Ser) n.220G>T n.428G>T c.416G>T (n.416G>T) c.250G>T (n.250G>T) c.242G>T (n.242G>T) c.220G>T (p.Ala74Ser) c.*26G>T (n.*26G>T) c.298G>T (p.Ala100Ser) n.967G>T n.378G>T c.-768G>T (n.-768G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |